BRCAZ - Overview: BRCA1/BRCA2 Genes, Full Gene Analysis

Test Catalog

Test Name

Test ID: BRCAZ    
BRCA1/BRCA2 Genes, Full Gene Analysis

Useful For Suggests clinical disorders or settings where the test may be helpful

Establishing a diagnosis of hereditary breast and ovarian cancer (HBOC)


Identification of familial BRCA1 or BRCA2 mutation to allow for predictive testing in family members

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test includes next-generation sequencing and multiplex ligation-dependent probe amplification to evaluate for mutations and large deletions/duplications in the BRCA1 and BRCA2 genes. Sanger sequencing may also be performed to confirm detected variants. Testing includes evaluation for the 3 Ashkenazi Jewish founder mutations commonly known as c.185delAG and c.5385insC in BRCA1, and c.6174delT in BRCA2, as well as the BRCA1 gene founder deletions prevalent in the Dutch population.(1)


Prior Authorization is available for this assay; see Special Instructions.

Special Instructions and Forms Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next Generation Sequencing Followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing and Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name A shorter or abbreviated version of the Published Name for a test; an abbreviated test name

BRCA1/BRCA2 Full Gene Analysis

Aliases Lists additional common names for a test, as an aid in searching

Breast Cancer
Breast and Ovarian Cancer Panel
Hereditary Breast and Ovarian Cancer
Hereditary Cancer Panel
Next Generation Sequencing
Ovarian Cancer
Targeted Gene Panel